Thrombocytopenia chromosome breakage


A very rare inherited disorder characterized by low blood platelets, carcinomas and autoimmunity.


- Low blood platelets - Carcinoma - Autoimmunity


Disorders of increased destruction * Immunologic platelet consumption –Immune thrombocytopenic purpura (ITP) –Drug-induced (antiepileptics, septra) –Infection (EBV, CMV, malaria, Parvovirus, HIV, other viral illnesses) –Autoimmune disease (SLE) –Evans syndrome: ITP with immune hemolytic anemia –Allergy or anaphylaxis –Posttransplant o Nonimmunologic –Chronic microangiopathic hemolytic anemia –Hemolytic-uremic syndrome (HUS) –Thrombotic thrombocytopenic purpura –Shear (catheters, cardiopulmonary bypass, congenital or acquired heart disease) * Disorders of decreased production Bone marrow infiltration: Leukemia, neuroblastoma, histiocytosis, osteopetrosis * Marrow failure: Aplastic anemia, congenital microangiopathic anemia, thrombocytopenia with absent radii (TAR), Fanconi anemia, myelodysplasia, amegakaryocytic thrombocytopenia * Abnormal platelet size or morphology –Bernard-Soulier –May-Hegglin –Gray platelet –Wiskott-Aldrich o Severe nutritional deficiency –B12, folate Combined disorders o DIC, Kasabach-Merritt syndrome, storage diseases, renal disease, pre-eclampsia Sequestration o Hypersplenism/portal hypertension, thrombosis, cavernous transformation of portal vein, hypothermia * Neonatal Congenital anomalies (trisomy 13 or 18) * Maternal causes: ITP, SLE, HELLP syndrome, DIC, hyperthyroidism, viral illness, drug use * NEC


* Dependent upon etiology, severity, and presence of acute bleeding * ITP –Bone marrow exam before treatment with steroids –Treatment with IVIG or WinRho does not need bone marrow exam –Platelet transfusion is ineffective in ITP but should be considered at counts 10,000 –Treatment does not hasten resolution of ITP –About 90% of children have resolution in 3–6 months –Older girls more likely to become chronic * Acute, isolated thrombocytopenia is almost never malignancy –Marrow exam should be done in children with chronic or complex illness or with no response to therapy